First report on the association of SCN1A mutation, childhood schizophrenia and autism spectrum disorder without epilepsy

Since the 1990 ’s ion channel genes have been identified and mutations in these genes have been reported in several neuropsychiatric diseases. Voltage-gated sodium channels are important for generation and propagation of signals, while three genes (SCN1A, SCN2A, SCN3A) are highly expressed in neurons and glia (I mbirici et al, 2013). SCN1A gene with other genes form a 1.4-Mb SCN cluster on chromosome 2q24.3. Several reports indicate that mutations of the SCN1A gene are responsible for certain epilepsy syndromes (Dravet-syndrome being the most relevant Wolf et al, 2006), that are associated with cognit ive dysfunctions, autistic features and psychiatric problems (Imbrici et al, 2013).

Source: Psychiatry Research - July 18, 2018 Category: Psychiatry Authors: Ren áta Papp-Hertelendi, Tamás Tényi, Kinga Hadzsiev, Lídia Hau, Zsuzsanna Benyus, Györgyi Csábi Source Type: research